Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ESX1_chrX_104245038_104259933	104250482	GTGGCACA others(20): Show GTGGCACAGGCGCCATGGGCGGCCCGGT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20905.hp1 NA20905.hp1	a0021 a0021	a0021c0032 a0021c0032	a0021c0032t0001 a0021c0032t0001	a0021c0032t0001g0049 a0021c0032t0001g0049	1	313	0.0032	-27	c.940 others(34): Show c.940_966delACCGGGCCGCCCATGGCGCCTGTGCCA	p.Thr others(13): Show p.Thr314_Pro322del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1050/1495	940/1221	314/406		chrX	TogoVar
ESX1_chrX_104245038_104259933	104250509	TTGGCACA others(20): Show TTGGCACAGGCGCCATGGGCGGCCAGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18955.hp1 NA18965.hp1 NA19066.hp1 others(1): Show NA18955.hp1 NA18965.hp1 NA19066.hp1 NA19067.hp1	a0012 a0035 a0012 a0035	a0012c0010 a0035c0038 a0012c0010 a0035c0038	a0012c0010t0001 a0035c0038t0001 a0012c0010t0001 a0035c0038t0001	a0012c0010t0001g0017 a0035c0038t0001g0077 a0012c0010t0001g0017 a0035c0038t0001g0077	4	313	0.0128	-27	c.913 others(34): Show c.913_939delCCCTGGCCGCCCATGGCGCCTGTGCCA	p.Pro others(13): Show p.Pro305_Pro313del	ESX1	ENSG00000123576.5	transcript	ENST00000372588.4	protein_coding	4/4	1023/1495	913/1221	305/406		chrX	TogoVar
EVA1A_chr2_75487318_75565939	75493442	CGCTGTCG others(2): Show CGCTGTCGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01358.hp2 HG01891.hp1 HG02257.hp1 others(14): Show HG01358.hp2 HG01891.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 NA19030.hp1 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 others(5): Show a0002c0003t0005 a0002c0003t0009 a0002c0003t0012 a0002c0003t0014 a0002c0003t0020 a0002c0003t0027 a0002c0003t0031 a0002c0003t0032	a0002c0003t0005g0035 a0002c0003t0005g0069 a0002c0003t0009g0367 others(14): Show a0002c0003t0005g0035 a0002c0003t0005g0069 a0002c0003t0009g0367 a0002c0003t0012g0028 a0002c0003t0012g0032 a0002c0003t0012g0034 a0002c0003t0012g0124 a0002c0003t0012g0126 a0002c0003t0012g0143 a0002c0003t0012g0144 a0002c0003t0014g0038 a0002c0003t0014g0040 a0002c0003t0014g0041 a0002c0003t0020g0184 a0002c0003t0027g0169 a0002c0003t0031g0233 a0002c0003t0032g0358	17	384	0.0443	-9	c.244 others(16): Show c.244_252delAGCGACAGC	p.Ser others(11): Show p.Ser82_Ser84del	EVA1A	ENSG00000115363.14	transcript	ENST00000393913.8	protein_coding	4/4	703/1828	244/459	82/152		chr2	TogoVar
EXOC3L4_chr14_103089725_103115559	103102455	CTGGGAGG others(8): Show CTGGGAGGAGGCGGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18972.hp2 NA18972.hp2	a0043 a0043	a0043c0067 a0043c0067	a0043c0067t0001 a0043c0067t0001	a0043c0067t0001g0016 a0043c0067t0001g0016	1	404	0.0025	-15	c.733 others(22): Show c.733_747delTGGGAGGAGGCGGTG	p.Trp others(13): Show p.Trp245_Val249del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	3/12	865/2637	733/2169	245/722		chr14	TogoVar
EXOC3L4_chr14_103089725_103115559	103110204	TGCTGATC others(11): Show TGCTGATCACCTGCGTCTA	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA19001.hp1 NA19001.hp1	a0000 a0000	a0000c0043 a0000c0043	a0000c0043t0005 a0000c0043t0005	a0000c0043t0005g0180 a0000c0043t0005g0180	1	404	0.0025	-18	c.215 others(27): Show c.2152_2169delCTGATCACCTGCGTCTAG	p.Leu others(13): Show p.Leu718_Ter723del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	12/12	2284/2637	2152/2169	718/722	INFO_REALIGN_3_PRIME	chr14	TogoVar
F8A1_chrX_154881355_154893061	154886731	GGCCGCCG others(56): Show GGCCGCCGCCAGCGCCCTGGGCGCCGCGGTGCGTCTGCACCTCGAGCTGG GCCAGCCGGCCGCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0000 a0002c0007t0001g0000	1	325	0.0031	-63	c.367 others(70): Show c.367_429delAGCGCCCTGGGCGCCGCGGTGCGTCTGCACCTCGAGCT GGGCCAGCCGGCCGCCGCCGCCGCC	p.Ser others(13): Show p.Ser123_Ala143del	F8A1	ENSG00000288722.1	transcript	ENST00000610495.2	protein_coding	1/1	387/1707	367/1116	123/371	INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM149B1_chr10_73163119_73249504	73240983	AGGCAGAC others(8): Show AGGCAGACCAGTCTCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00558.hp1 HG00621.hp1 others(35): Show HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG01074.hp2 HG01346.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 NA18964.hp2 NA18968.hp1 NA18981.hp2 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA19006.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19074.hp1 NA19077.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0003 a0008 a0009 others(1): Show a0003 a0008 a0009 a0010	a0003c0003 a0008c0008 a0009c0007 others(1): Show a0003c0003 a0008c0008 a0009c0007 a0010c0005	a0003c0003t0001 a0003c0003t0005 a0003c0003t0008 others(6): Show a0003c0003t0001 a0003c0003t0005 a0003c0003t0008 a0003c0003t0012 a0003c0003t0013 a0003c0003t0018 a0008c0008t0005 a0009c0007t0008 a0010c0005t0017	a0003c0003t0001g0001 a0003c0003t0001g0089 a0003c0003t0001g0090 others(33): Show a0003c0003t0001g0001 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0107 a0003c0003t0001g0112 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0143 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0193 a0003c0003t0005g0006 a0003c0003t0005g0025 a0003c0003t0005g0083 a0003c0003t0005g0084 a0003c0003t0008g0003 a0003c0003t0008g0004 a0003c0003t0012g0005 a0003c0003t0012g0087 a0003c0003t0013g0186 a0003c0003t0018g0199 a0008c0008t0005g0085 a0009c0007t0008g0008 a0010c0005t0017g0007	38	236	0.1610	-15	c.171 others(24): Show c.1714_1728delGGCAGACCAGTCTCT	p.Gly others(13): Show p.Gly572_Ser576del	FAM149B1	ENSG00000138286.15	transcript	ENST00000242505.11	protein_coding	14/14	1935/5455	1714/1749	572/582		chr10	TogoVar
FAM200B_chr4_15676827_15695447	15687392	TCTA TCTA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0004 a0005c0007t0001g0004	3	434	0.0069	-3	c.418 others(10): Show c.418_420delACT	p.Thr others(6): Show p.Thr140del	FAM200B	ENSG00000237765.8	transcript	ENST00000422728.3	protein_coding	2/2	1235/4287	418/1974	140/657	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM47A_chrX_34124752_34137314	34130688	CGAGACTG others(32): Show CGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00642.hp1 HG00733.hp1 others(24): Show HG00280.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01981.hp1 HG02055.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp1 HG02886.hp1 HG02976.hp1 HG03239.hp1 HG06807.hp2 NA19083.hp1 NA20805.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	27	324	0.0833	-39	c.155 others(48): Show c.1552_1590delCGCTCGGAGCCTCCCAAGACTCGTCGGACGTCCAGT CTC	p.Arg others(13): Show p.Arg518_Leu530del	FAM47A	ENSG00000185448.12	transcript	ENST00000346193.5	protein_coding	1/1	1626/2563	1552/2376	518/791		chrX	TogoVar
FAM47A_chrX_34124752_34137314	34131540	TATGGGAC others(29): Show TATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03017.hp1 HG03017.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0000 a0009c0013t0001g0000	1	324	0.0031	-36	c.703 others(43): Show c.703_738delCTCCGCCCGGAGCCTCCAGAGACTGGAGTGTCCCAT	p.Leu others(13): Show p.Leu235_His246del	FAM47A	ENSG00000185448.12	transcript	ENST00000346193.5	protein_coding	1/1	774/2563	703/2376	235/791		chrX	TogoVar
FAM8A1_chr6_17595302_17616715	17600535	CCCCCAGG others(5): Show CCCCCAGGCCGAA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02083.hp1 NA18984.hp2 NA19054.hp1 others(1): Show HG02083.hp1 NA18984.hp2 NA19054.hp1 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0001 a0002c0002t0001g0005	4	374	0.0107	-12	c.136 others(19): Show c.136_147delGAACCCCAGGCC	p.Glu others(11): Show p.Glu46_Ala49del	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding	1/5	244/4726	136/1242	46/413	INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM98C_chr19_38398093_38414084	38408861	CAAG CAAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04228.hp1 NA18991.hp1 NA19072.hp2 HG04228.hp1 NA18991.hp1 NA19072.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0001 a0007c0008t0001g0007 a0007c0008t0001g0001 a0007c0008t0001g0007	3	380	0.0079	-3	c.104 others(12): Show c.1045_1047delAAG	p.Lys others(6): Show p.Lys349del	FAM98C	ENSG00000130244.13	transcript	ENST00000252530.10	protein_coding	8/8	1106/1313	1045/1050	349/349	INFO_REALIGN_3_PRIME	chr19	TogoVar
FBLL1_chr5_168524305_168535634	168529573	GGGCGGGG others(32): Show GGGCGGGGGCCGAGGCGGCGGCGGCGGCGCGGGCAAGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19062.hp2 NA19062.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0002 a0006c0011t0002	a0006c0011t0002g0000 a0006c0011t0002g0000	1	460	0.0022	-39	c.79_ others(45): Show c.79_117delCGAGGCGGCGGCGGCGGCGCGGGCAAGGGCGGCGGGGGC	p.Arg others(11): Show p.Arg27_Gly39del	FBLL1	ENSG00000188573.8	transcript	ENST00000338333.5	protein_coding	1/1	279/1330	79/1005	27/334	INFO_REALIGN_3_PRIME	chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132583284	GGCCTGGG others(8): Show GGCCTGGGCCGCGAGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01346.hp2 NA20805.hp1 HG01346.hp2 NA20805.hp1	a0014 a0014	a0014c0038 a0014c0038	a0014c0038t0002 a0014c0038t0002	a0014c0038t0002g0276 a0014c0038t0002g0345 a0014c0038t0002g0276 a0014c0038t0002g0345	2	348	0.0058	-15	c.252 others(24): Show c.2524_2538delCGCGAGCGCCTGGGC	p.Arg others(13): Show p.Arg842_Gly846del	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	19/19	2944/4839	2524/3009	842/1002	INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO45_chr3_196563660_196594059	196569044	CGGCGCG CGGCGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01255.hp2 HG02559.hp2 HG03453.hp1 others(2): Show HG01255.hp2 HG02559.hp2 HG03453.hp1 HG03453.hp2 NA19240.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0052 a0002c0003t0014g0053 a0002c0003t0014g0200 a0002c0003t0014g0052 a0002c0003t0014g0053 a0002c0003t0014g0200	5	452	0.0111	-6	c.76_ others(11): Show c.76_81delGCGGGC	p.Ala others(11): Show p.Ala26_Gly27del	FBXO45	ENSG00000174013.8	transcript	ENST00000311630.7	protein_coding	1/3	401/5927	76/861	26/286	INFO_REALIGN_3_PRIME	chr3	TogoVar
FGFR4_chr5_177081915_177103144	177097639	CCAGCTCC others(8): Show CCAGCTCCTTCCCCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18970.hp2 NA18970.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0007 a0007c0015t0007	a0007c0015t0007g0036 a0007c0015t0007g0036	1	372	0.0027	-15	c.237 others(24): Show c.2374_2388delAGCTCCTTCCCCTTC	p.Ser others(13): Show p.Ser792_Phe796del	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	18/18	2590/3093	2374/2409	792/802	INFO_REALIGN_3_PRIME	chr5	TogoVar
FLG_chr1_152297165_152330239	152306299	TGGAAGCT others(965): Show TGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGAT TGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCC ACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACC CTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTT CCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTG GGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTT GTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGT TCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTC CCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAG CCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCC TCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCT GACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGT CTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTT GCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTG ACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTC TGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCC TGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGA GTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCC AGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAG TGTCCAGAGCTGTCGGCCCGAGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02809.hp1 HG02965.hp2 HG02976.hp2 others(1): Show HG02809.hp1 HG02965.hp2 HG02976.hp2 NA18522.hp2	a0045 a0103 a0104 a0045 a0103 a0104	a0045c0120 a0045c0121 a0103c0119 others(1): Show a0045c0120 a0045c0121 a0103c0119 a0104c0118	a0045c0120t0001 a0045c0121t0001 a0103c0119t0001 others(1): Show a0045c0120t0001 a0045c0121t0001 a0103c0119t0001 a0104c0118t0001	a0045c0120t0001g0227 a0045c0121t0001g0228 a0103c0119t0001g0230 others(1): Show a0045c0120t0001g0227 a0045c0121t0001g0228 a0103c0119t0001g0230 a0104c0118t0001g0229	4	426	0.0094	-972	c.761 others(9): Show c.7615_8586del	p.Ser others(15): Show p.Ser2539_Ser2862del	FLG	ENSG00000143631.11	transcript	ENST00000368799.2	protein_coding	3/3	8658/12793	7615/12186	2539/4061		chr1	TogoVar
FMN1_chr15_32760544_33199714	32798901	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG01255.hp2 HG01361.hp2 HG00099.hp2 HG01255.hp2 HG01361.hp2	a0022 a0028 a0022 a0028	a0022c0024 a0028c0042 a0022c0024 a0028c0042	a0022c0024t0005 a0028c0042t0054 a0022c0024t0005 a0028c0042t0054	a0022c0024t0005g0056 a0022c0024t0005g0062 a0028c0042t0054g0125 a0022c0024t0005g0056 a0022c0024t0005g0062 a0028c0042t0054g0125	3	196	0.0153	-3	c.403 others(12): Show c.4030_4032delAAG	p.Lys others(7): Show p.Lys1344del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/21	4517/13511	4030/4260	1344/1419		chr15	TogoVar
FNBP4_chr11_47711494_47772341	47767111	CGGTGGT CGGTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(107): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19062.hp2 NA19074.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009	a0002c0002 a0002c0021 a0003c0004 others(5): Show a0002c0002 a0002c0021 a0003c0004 a0004c0005 a0005c0007 a0006c0010 a0008c0020 a0009c0022	a0002c0002t0001 a0002c0002t0002 a0002c0021t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0021t0001 a0003c0004t0001 a0004c0005t0001 a0005c0007t0001 a0006c0010t0001 a0008c0020t0001 a0009c0022t0001	a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 others(107): Show a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0262 a0002c0002t0001g0265 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0301 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0310 a0002c0002t0001g0311 a0002c0002t0001g0312 a0002c0002t0001g0313 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0002g0266 a0002c0021t0001g0263 a0003c0004t0001g0240 a0003c0004t0001g0241 a0003c0004t0001g0243 a0003c0004t0001g0245 a0003c0004t0001g0248 a0003c0004t0001g0252 a0003c0004t0001g0253 a0003c0004t0001g0256 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0264 a0004c0005t0001g0338 a0004c0005t0001g0339 a0004c0005t0001g0340 a0004c0005t0001g0341 a0004c0005t0001g0342 a0004c0005t0001g0343 a0004c0005t0001g0344 a0004c0005t0001g0345 a0005c0007t0001g0291 a0005c0007t0001g0296 a0005c0007t0001g0317 a0006c0010t0001g0244 a0006c0010t0001g0258 a0008c0020t0001g0321 a0009c0022t0001g0295	110	350	0.3143	-6	c.172 others(13): Show c.172_177delACCACC	p.Thr others(11): Show p.Thr58_Thr59del	FNBP4	ENSG00000109920.13	transcript	ENST00000263773.10	protein_coding	1/17	230/4035	172/3054	58/1017		chr11	TogoVar
FOXD3_chr1_63317567_63330128	63323312	CGGCCGGA others(5): Show CGGCCGGAGCCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0000 a0011c0008t0001g0000	1	460	0.0022	-12	c.262 others(19): Show c.262_273delGCCGGGGCCGGA	p.Ala others(11): Show p.Ala88_Gly91del	FOXD3	ENSG00000187140.6	transcript	ENST00000371116.4	protein_coding	1/1	754/2562	262/1437	88/478	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXE1_chr9_97848226_97861717	97854418	AGCCGCC AGCCGCC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0013 a0001c0015 a0001c0018 a0003c0006 a0006c0008 a0007c0017	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(16): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0004 a0001c0003t0005 a0001c0003t0011 a0001c0005t0006 a0001c0007t0001 a0001c0013t0013 a0001c0015t0012 a0001c0018t0001 a0003c0006t0001 a0006c0008t0001 a0007c0017t0004	a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 others(16): Show a0001c0001t0001g0000 a0001c0001t0008g0000 a0001c0001t0009g0000 a0001c0001t0010g0000 a0001c0001t0014g0000 a0001c0001t0015g0000 a0001c0001t0016g0000 a0001c0001t0017g0000 a0001c0003t0004g0000 a0001c0003t0005g0000 a0001c0003t0011g0000 a0001c0005t0006g0000 a0001c0007t0001g0000 a0001c0013t0013g0000 a0001c0015t0012g0000 a0001c0018t0001g0000 a0003c0006t0001g0000 a0006c0008t0001g0000 a0007c0017t0004g0000	262	328	0.7988	-6	c.532 others(13): Show c.532_537delGCCGCC	p.Ala others(13): Show p.Ala178_Ala179del	FOXE1	ENSG00000178919.9	transcript	ENST00000375123.5	protein_coding	1/1	1221/3492	532/1122	178/373	INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXE1_chr9_97848226_97861717	97854418	AGCCGCCG others(5): Show AGCCGCCGCCGCC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG03710.hp2 HG00280.hp2 HG03710.hp2	a0004 a0004	a0004c0014 a0004c0016 a0004c0014 a0004c0016	a0004c0014t0002 a0004c0016t0003 a0004c0014t0002 a0004c0016t0003	a0004c0014t0002g0000 a0004c0016t0003g0000 a0004c0014t0002g0000 a0004c0016t0003g0000	2	328	0.0061	-12	c.526 others(19): Show c.526_537delGCCGCCGCCGCC	p.Ala others(13): Show p.Ala176_Ala179del	FOXE1	ENSG00000178919.9	transcript	ENST00000375123.5	protein_coding	1/1	1215/3492	526/1122	176/373	INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXK2_chr17_82514732_82609602	82519935	CGGGCGGC others(8): Show CGGGCGGCGGGGCCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01099.hp1 HG01109.hp2 others(23): Show HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG02040.hp1 HG02129.hp2 HG02293.hp2 HG02572.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp1 HG03490.hp2 HG03704.hp2 HG03710.hp2 NA19004.hp2 NA19043.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2	a0002 a0022 a0002 a0022	a0002c0002 a0002c0030 a0022c0029 a0002c0002 a0002c0030 a0022c0029	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0017 a0002c0002t0018 a0002c0002t0041 a0002c0030t0001 a0022c0029t0002	a0002c0002t0001g0042 a0002c0002t0001g0099 a0002c0002t0001g0101 others(23): Show a0002c0002t0001g0042 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0106 a0002c0002t0001g0110 a0002c0002t0001g0116 a0002c0002t0002g0107 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0003g0006 a0002c0002t0003g0145 a0002c0002t0004g0104 a0002c0002t0007g0200 a0002c0002t0008g0109 a0002c0002t0011g0035 a0002c0002t0011g0036 a0002c0002t0011g0037 a0002c0002t0011g0038 a0002c0002t0013g0105 a0002c0002t0017g0112 a0002c0002t0017g0114 a0002c0002t0018g0115 a0002c0002t0041g0102 a0002c0030t0001g0108 a0022c0029t0002g0100	26	308	0.0844	-15	c.73_ others(20): Show c.73_87delGCCGGGGGCGGCGGG	p.Ala others(11): Show p.Ala25_Gly29del	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	1/9	230/5243	73/1983	25/660	INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXL1_chr16_86573549_86588478	86579695	GCTCGGGA others(8): Show GCTCGGGATCCCCTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02738.hp1 HG02738.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0004 a0007c0011t0004	a0007c0011t0004g0000 a0007c0011t0004g0000	1	462	0.0022	-15	c.976 others(22): Show c.976_990delGGGATCCCCTTCCTC	p.Gly others(13): Show p.Gly326_Leu330del	FOXL1	ENSG00000176678.6	transcript	ENST00000320241.5	protein_coding	1/1	1151/4930	976/1038	326/345	INFO_REALIGN_3_PRIME	chr16	TogoVar
FSCB_chr14_44499149_44512283	44504920	TCTCCTCA others(65): Show TCTCCTCAGCTGGTAGAGACTGAACTTCAGCAGGGGCCTCCTCAGCTGGT GGAGGCTGAACTTCAGCGGGGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02451.hp2 HG03098.hp1 others(5): Show HG01884.hp1 HG02451.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG06807.hp1 HG06807.hp2 NA21309.hp2	a0006 a0012 a0006 a0012	a0006c0009 a0006c0028 a0012c0015 a0006c0009 a0006c0028 a0012c0015	a0006c0009t0005 a0006c0028t0005 a0012c0015t0005 a0006c0009t0005 a0006c0028t0005 a0012c0015t0005	a0006c0009t0005g0000 a0006c0028t0005g0000 a0012c0015t0005g0000 a0006c0009t0005g0000 a0006c0028t0005g0000 a0012c0015t0005g0000	8	446	0.0179	-72	c.199 others(81): Show c.1996_2067delGCCCCCGCTGAAGTTCAGCCTCCACCAGCTGAGGAG GCCCCTGCTGAAGTTCAGTCTCTACCAGCTGAGGAG	p.Ala others(13): Show p.Ala666_Glu689del	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2363/3135	1996/2478	666/825		chr14	TogoVar
FTCD_chr21_46131779_46160579	46137283	GCACGTTG others(26): Show GCACGTTGAAATATGCGCCAAACACGCCCATCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02135.hp1 HG02135.hp1	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0001 a0012c0028t0001	a0012c0028t0001g0009 a0012c0028t0001g0009	1	230	0.0044	-33	c.146 others(42): Show c.1462_1494delGAGATGGGCGTGTTTGGCGCATATTTCAACGTG	p.Glu others(13): Show p.Glu488_Val498del	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	13/14	1550/1890	1462/1626	488/541		chr21	TogoVar
GABRQ_chrX_152632895_152662542	152652809	GTAT GTAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01243.hp1 HG01884.hp2 HG02109.hp1 others(10): Show HG01243.hp1 HG01884.hp2 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03579.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0008 a0003c0003 a0003c0008	a0003c0003t0001 a0003c0003t0009 a0003c0008t0001 a0003c0003t0001 a0003c0003t0009 a0003c0008t0001	a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 others(6): Show a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0060 a0003c0003t0001g0070 a0003c0003t0001g0122 a0003c0003t0001g0130 a0003c0003t0009g0027 a0003c0008t0001g0124	13	298	0.0436	-3	c.143 others(12): Show c.1432_1434delATT	p.Ile others(6): Show p.Ile478del	GABRQ	ENSG00000268089.3	transcript	ENST00000598523.3	protein_coding	9/9	1740/6468	1432/1899	478/632	INFO_REALIGN_3_PRIME	chrX	TogoVar
GARIN2_chr14_67184440_67228940	67204904	ATCACAGA others(2): Show ATCACAGATG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0032 a0004c0008t0001g0195 a0004c0008t0001g0032 a0004c0008t0001g0195	3	332	0.0090	-9	c.736 others(16): Show c.736_744delGTCACAGAT	p.Val others(13): Show p.Val246_Asp248del	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	5/8	979/1620	736/1254	246/417	INFO_REALIGN_3_PRIME	chr14	TogoVar
GDF1_chr19_18863545_18901158	18868803	CGACGGGC others(8): Show CGACGGGCAGCGCGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18949.hp1 NA18949.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0003 a0007c0009t0003	a0007c0009t0003g0224 a0007c0009t0003g0224	1	380	0.0026	-15	c.898 others(22): Show c.898_912delTGCGCGCTGCCCGTC	p.Cys others(13): Show p.Cys300_Val304del	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	8/8	2320/2579	898/1119	300/372		chr19	TogoVar
GDF7_chr2_20662144_20684243	20667448	CCCGCGCC others(5): Show CCCGCGCCGCGCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03704.hp1 HG03704.hp1	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0244 a0014c0028t0244	a0014c0028t0244g0001 a0014c0028t0244g0001	1	442	0.0023	-12	c.220 others(19): Show c.220_231delCGCCGCGCCGCG	p.Arg others(11): Show p.Arg74_Ala77del	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	316/9267	220/1353	74/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF1_chr7_100674507_100699250	100684099	GCGGTGTC others(8): Show GCGGTGTCAGGTCCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0042 a0012c0016t0042	a0012c0016t0042g0096 a0012c0016t0042g0096	1	398	0.0025	-15	c.177 others(24): Show c.1774_1788delGGGGACCTGACACCG	p.Gly others(13): Show p.Gly592_Pro596del	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	18/27	3027/6559	1774/3108	592/1035		chr7	TogoVar
GIGYF1_chr7_100674507_100699250	100685443	TCTC TCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18612.hp1 NA18966.hp2 NA18983.hp2 NA18612.hp1 NA18966.hp2 NA18983.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0022 a0005c0007t0002g0022	3	398	0.0075	-3	c.109 others(12): Show c.1090_1092delGAG	p.Glu others(6): Show p.Glu364del	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	13/27	2331/6559	1090/3108	364/1035		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232847552	CACAGCAG others(5): Show CACAGCAGCCACA	C C	conservative_inframe_deletion others(1): Show conservative_inframe_deletion splice_region_variant	MODERATE	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0207 a0004c0011t0001g0224 a0004c0011t0001g0207 a0004c0011t0001g0224	2	376	0.0053	-12	c.367 others(21): Show c.3673_3684delCCACAACAGCAG	p.Pro others(15): Show p.Pro1225_Gln1228del	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3844/7816	3673/3900	1225/1299	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLYATL3_chr6_49494923_49533078	49526875	TCTCACCC others(53): Show TCTCACCCCTGCGACTTTCTCTGGCCTGCCTCACCTCTAGCCCAGTAAAA AACTGCAGTGG	T T	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA21309.hp2 NA21309.hp2	a0000 a0000	a0000c0018 a0000c0018	a0000c0018t0014 a0000c0018t0014	a0000c0018t0014g0009 a0000c0018t0014g0009	1	380	0.0026	-60	c.829 others(67): Show c.829_*21delCTCACCCCTGCGACTTTCTCTGGCCTGCCTCACCTCTA GCCCAGTAAAAAACTGCAGTGG	p.Leu others(13): Show p.Leu277_Ter289del	GLYATL3	ENSG00000203972.10	transcript	ENST00000371197.9	protein_coding	6/6	977/2179	829/867	277/288		chr6	TogoVar
GNL3_chr3_52681032_52699497	52693748	CAGG CAGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01074.hp1 HG01243.hp2 HG01884.hp2 others(5): Show HG01074.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02451.hp2 HG02717.hp1 HG03195.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0015 a0004c0005t0002g0016 a0004c0005t0002g0017 others(1): Show a0004c0005t0002g0015 a0004c0005t0002g0016 a0004c0005t0002g0017 a0004c0005t0002g0025	8	394	0.0203	-3	c.144 others(12): Show c.1447_1449delGAG	p.Glu others(6): Show p.Glu483del	GNL3	ENSG00000163938.17	transcript	ENST00000418458.6	protein_coding	13/15	1508/1933	1447/1650	483/549	INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA6C_chr15_75253334_75278455	75264067	AGCAGGAA others(61): Show AGCAGGAAGAGGACAGGGTGAGTCCAACCAGCTGCCCCATCCCCTGGCAG CCTGGCTTCCCAGATAGAG	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02965.hp1 HG02965.hp1	a0029 a0029	a0029c0028 a0029c0028	a0029c0028t0011 a0029c0028t0011	a0029c0028t0011g0100 a0029c0028t0011g0100	1	200	0.0050	-68	c.550 others(78): Show c.550_564+53delCAGGAAGAGGACAGGGTGAGTCCAACCAGCTGCCC CATCCCCTGGCAGCCTGGCTTCCCAGATAGAGG	p.Gln others(13): Show p.Gln184_Arg188del	GOLGA6C	ENSG00000167195.8	transcript	ENST00000300576.6	protein_coding	7/18	815/5603	550/2082	184/693	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344656	TCCTCTCC others(11): Show TCCTCTCCAGCTCCCGCAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00621.hp1 HG00621.hp2 others(19): Show HG00558.hp2 HG00621.hp1 HG00621.hp2 HG02027.hp2 HG02040.hp1 HG02132.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18990.hp2 NA19088.hp2	a0005 a0006 a0033 others(1): Show a0005 a0006 a0033 a0049	a0005c0005 a0006c0006 a0033c0032 others(1): Show a0005c0005 a0006c0006 a0033c0032 a0049c0042	a0005c0005t0002 a0005c0005t0013 a0005c0005t0023 others(4): Show a0005c0005t0002 a0005c0005t0013 a0005c0005t0023 a0006c0006t0001 a0006c0006t0014 a0033c0032t0001 a0049c0042t0005	a0005c0005t0002g0004 a0005c0005t0002g0149 a0005c0005t0013g0040 others(7): Show a0005c0005t0002g0004 a0005c0005t0002g0149 a0005c0005t0013g0040 a0005c0005t0013g0134 a0005c0005t0023g0133 a0006c0006t0001g0006 a0006c0006t0001g0073 a0006c0006t0014g0087 a0033c0032t0001g0071 a0049c0042t0005g0106	22	301	0.0731	-18	c.118 others(27): Show c.1186_1203delCTGCGGGAGCTGGAGAGG	p.Leu others(13): Show p.Leu396_Arg401del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1303/4452	1186/1569	396/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344887	TCTCCTGT others(266): Show TCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGT TCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAG CCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCT CCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCA CGTAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACGTAGCCT CTCCTCCTGTTCACACAGCCTCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0003 a0024c0023t0003	a0024c0023t0003g0102 a0024c0023t0003g0104 a0024c0023t0003g0102 a0024c0023t0003g0104	2	301	0.0066	-273	c.700 others(7): Show c.700_972del	p.Glu others(13): Show p.Glu234_Glu324del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1072/4452	700/1569	234/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344920	ATAGCCTC others(119): Show ATAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACGTAGCCTC TCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCTCCTCCTG TTCACGTAGCCTCTCCTCCTGTTCACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG01106.hp1 HG01243.hp1 others(5): Show HG00423.hp2 HG01106.hp1 HG01243.hp1 HG02280.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp1 NA18966.hp2	a0001 a0028 a0029 others(1): Show a0001 a0028 a0029 a0053	a0001c0001 a0028c0048 a0029c0039 others(1): Show a0001c0001 a0028c0048 a0029c0039 a0053c0049	a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 others(4): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0028c0048t0003 a0029c0039t0001 a0053c0049t0045	a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0011g0118 others(5): Show a0001c0001t0003g0013 a0001c0001t0003g0033 a0001c0001t0011g0118 a0001c0001t0022g0113 a0001c0001t0027g0108 a0028c0048t0003g0100 a0029c0039t0001g0080 a0053c0049t0045g0124	8	301	0.0266	-126	c.814 others(7): Show c.814_939del	p.Arg others(13): Show p.Arg272_Leu313del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1039/4452	814/1569	272/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344941	ATAGCCTC others(77): Show ATAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTC TCCTCCTGTTCACATAGCCTCTCCTCCTGTTCACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp2 HG00423.hp1 HG00609.hp2 others(51): Show HG00140.hp2 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03453.hp1 HG03579.hp1 HG03704.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18956.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp1 NA18985.hp1 NA18986.hp1 NA18998.hp2 NA19000.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19060.hp1 NA19065.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp2	a0001 a0027 a0041 others(1): Show a0001 a0027 a0041 a0048	a0001c0001 a0027c0050 a0041c0056 others(1): Show a0001c0001 a0027c0050 a0041c0056 a0048c0043	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0027c0050t0003 a0041c0056t0002 a0048c0043t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 others(18): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0013 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0101 a0001c0001t0003g0120 a0001c0001t0005g0016 a0001c0001t0005g0056 a0001c0001t0005g0111 a0001c0001t0005g0115 a0001c0001t0016g0037 a0001c0001t0028g0109 a0001c0001t0032g0114 a0001c0001t0034g0117 a0001c0001t0035g0119 a0027c0050t0003g0122 a0041c0056t0002g0131 a0048c0043t0003g0110	54	301	0.1794	-84	c.835 others(91): Show c.835_918delCGTGAACAGGAGGAGAGGCTATGTGAACAGGAGGAGAG GCTGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCTA	p.Arg others(13): Show p.Arg279_Leu306del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	1018/4452	835/1569	279/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345004	ATAGCCTC others(14): Show ATAGCCTCTCCTCCTGTTCACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00741.hp1 HG01074.hp2 HG00741.hp1 HG01074.hp2	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0004 a0018c0021t0004	a0018c0021t0004g0022 a0018c0021t0004g0022	2	301	0.0066	-21	c.835 others(28): Show c.835_855delCGTGAACAGGAGGAGAGGCTA	p.Arg others(13): Show p.Arg279_Leu285del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	955/4452	835/1569	279/522		chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465755	GTGTGGAG others(53): Show GTGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGAAGAAACGGGAGCA GGAGGAGAAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18747.hp2 NA18747.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0002 a0025c0033t0002	a0025c0033t0002g0001 a0025c0033t0002g0001	1	226	0.0044	-60	c.153 others(69): Show c.1531_1590delAAGAAACGGGAGCAGGAGGAGAAGATGTGGAGGCAG GAGGAGAAGATACGGGAGCAGGAG	p.Lys others(13): Show p.Lys511_Glu530del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1622/4401	1531/2565	511/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465762	GGCAGGAG others(74): Show GGCAGGAGGAGAAGATACGGGAGCAGGAGAAGAAACGGGAGCAGGAGGAG AAGATGTGGAGGCAGGAGGAGAAGATACGGGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp1 HG02451.hp2 NA18522.hp2 others(1): Show HG02451.hp1 HG02451.hp2 NA18522.hp2 NA21309.hp2	a0010 a0028 a0010 a0028	a0010c0015 a0028c0043 a0010c0015 a0028c0043	a0010c0015t0004 a0028c0043t0010 a0010c0015t0004 a0028c0043t0010	a0010c0015t0004g0015 a0010c0015t0004g0060 a0028c0043t0010g0063 a0010c0015t0004g0015 a0010c0015t0004g0060 a0028c0043t0010g0063	4	226	0.0177	-81	c.153 others(90): Show c.1531_1611delAAGAAACGGGAGCAGGAGGAGAAGATGTGGAGGCAG GAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAG	p.Lys others(13): Show p.Lys511_Glu537del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1622/4401	1531/2565	511/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22465811	GAAGATGT others(131): Show GAAGATGTGGAGGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATAC GGGAGCAGGAGGAGATGTGGAGGGAGGAAGAGAAGATGCATGAGCAGGAG AAGATATGGGAGGAGGAGAAGAGGCAGGAGCAGGAGGAT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02155.hp2 HG02886.hp1 HG02886.hp2 others(1): Show HG02155.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp2	a0000 a0041 a0051 others(1): Show a0000 a0041 a0051 a0052	a0000c0066 a0041c0054 a0051c0065 others(1): Show a0000c0066 a0041c0054 a0051c0065 a0052c0067	a0000c0066t0003 a0041c0054t0003 a0051c0065t0004 others(1): Show a0000c0066t0003 a0041c0054t0003 a0051c0065t0004 a0052c0067t0003	a0000c0066t0003g0055 a0041c0054t0003g0058 a0051c0065t0004g0054 others(1): Show a0000c0066t0003g0055 a0041c0054t0003g0058 a0051c0065t0004g0054 a0052c0067t0003g0061	4	226	0.0177	-138	c.159 others(9): Show c.1597_1734del	p.Ile others(13): Show p.Ile533_Lys578del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1688/4401	1597/2565	533/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466049	GAGGAGAA others(158): Show GAGGAGAAGATGTGGAAGCAGGAGGAGAAGATAAGGGAGCAGGAGGAGAA GATACGGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATACGAG AGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAA GAGAAGATGCAAGAAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02132.hp2 HG02132.hp2	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0001 a0023c0036t0001g0001	1	226	0.0044	-165	c.180 others(9): Show c.1801_1965del	p.Trp others(13): Show p.Trp601_Met655del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1892/4401	1801/2565	601/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466067	CAGG CAGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01891.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG01891.hp2 HG02451.hp1 HG02451.hp2 HG03453.hp2 NA18522.hp2	a0010 a0048 a0049 a0010 a0048 a0049	a0010c0015 a0048c0062 a0049c0063 a0010c0015 a0048c0062 a0049c0063	a0010c0015t0004 a0048c0062t0004 a0049c0063t0003 a0010c0015t0004 a0048c0062t0004 a0049c0063t0003	a0010c0015t0004g0015 a0010c0015t0004g0060 a0048c0062t0004g0057 others(1): Show a0010c0015t0004g0015 a0010c0015t0004g0060 a0048c0062t0004g0057 a0049c0063t0003g0053	5	226	0.0221	-3	c.181 others(12): Show c.1813_1815delGAG	p.Glu others(6): Show p.Glu605del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	1904/4401	1813/2565	605/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466394	TGGGAGCA others(140): Show TGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCA GGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGA AGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG03834.hp2 NA18947.hp2 others(4): Show HG00738.hp2 HG03834.hp2 NA18947.hp2 NA18966.hp2 NA18969.hp1 NA19004.hp1 NA19090.hp2	a0013 a0021 a0027 others(3): Show a0013 a0021 a0027 a0030 a0038 a0044	a0013c0017 a0021c0037 a0027c0032 others(3): Show a0013c0017 a0021c0037 a0027c0032 a0030c0049 a0038c0042 a0044c0059	a0013c0017t0001 a0021c0037t0001 a0027c0032t0002 others(3): Show a0013c0017t0001 a0021c0037t0001 a0027c0032t0002 a0030c0049t0001 a0038c0042t0002 a0044c0059t0001	a0013c0017t0001g0001 a0013c0017t0001g0045 a0021c0037t0001g0009 others(4): Show a0013c0017t0001g0001 a0013c0017t0001g0045 a0021c0037t0001g0009 a0027c0032t0002g0007 a0030c0049t0001g0014 a0038c0042t0002g0001 a0044c0059t0001g0001	7	226	0.0310	-147	c.228 others(9): Show c.2281_2427del	p.Gly others(13): Show p.Gly761_Met809del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2372/4401	2281/2565	761/854	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28351165	TCTCCTCC others(92): Show TCTCCTCCTCCCATATCTTCTCCTGCTCATGCATCTTCTCTTCCTCCCTC CACATCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCCTCCACATCTTCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18950.hp2 NA18954.hp2 NA19001.hp2 NA18950.hp2 NA18954.hp2 NA19001.hp2	a0029 a0030 a0031 a0029 a0030 a0031	a0029c0036 a0030c0038 a0031c0037 a0029c0036 a0030c0038 a0031c0037	a0029c0036t0007 a0030c0038t0007 a0031c0037t0009 a0029c0036t0007 a0030c0038t0007 a0031c0037t0009	a0029c0036t0007g0064 a0030c0038t0007g0066 a0031c0037t0009g0065 a0029c0036t0007g0064 a0030c0038t0007g0066 a0031c0037t0009g0065	3	200	0.0150	-99	c.148 others(108): Show c.1486_1584delGAGAAGATGTGGAGGCAGGAGGAGAAGATACGGGAG CAGGAGGAGATGTGGAGGGAGGAAGAGAAGATGCATGAGCAGGAGAAGAT ATGGGAGGAGGAG	p.Glu others(13): Show p.Glu496_Glu528del	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	8/9	1645/4304	1486/2499	496/832		chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327018	CCTCCTGT others(200): Show CCTCCTGTTCTTGCATCTTCTCTTCCTGCTCACACATCTTCTCCTCCTGC TCCCACATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCTCTCGTAT CTTCTCCTCCTGCTCCCATATCTTCTCCTCCTGCTCTCGTATCTTCTCCT TCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCCTC CGCATCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0057 a0057	a0057c0022 a0057c0022	a0057c0022t0002 a0057c0022t0002	a0057c0022t0002g0023 a0057c0022t0002g0023	1	182	0.0055	-207	c.163 others(9): Show c.1636_1842del	p.Lys others(13): Show p.Lys546_Glu614del	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1903/3731	1636/1950	546/649		chr15	TogoVar
GOLGA6L26_chr15_23319535_23339196	23327126	CCTGCTCC others(35): Show CCTGCTCCCATATCTTCTCCTCCTGCTCTCGTATCTTCTCCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00733.hp2 HG00741.hp2 HG01069.hp1 others(92): Show HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02083.hp1 HG02300.hp1 HG02300.hp2 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18990.hp1 NA18990.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0006 a0014 others(13): Show a0001 a0006 a0014 a0015 a0018 a0020 a0021 a0025 a0027 a0030 a0046 a0047 a0048 a0049 a0050 a0056	a0001c0001 a0001c0005 a0006c0007 others(15): Show a0001c0001 a0001c0005 a0006c0007 a0014c0015 a0015c0016 a0018c0048 a0018c0049 a0020c0018 a0021c0021 a0025c0025 a0027c0030 a0030c0034 a0046c0050 a0047c0051 a0048c0047 a0049c0054 a0050c0055 a0056c0061	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0005t0001 a0006c0007t0001 a0006c0007t0002 a0014c0015t0001 a0014c0015t0004 a0015c0016t0002 a0015c0016t0003 a0018c0048t0001 a0018c0049t0008 a0020c0018t0001 a0021c0021t0001 a0025c0025t0001 a0027c0030t0001 a0030c0034t0001 a0046c0050t0001 a0047c0051t0001 a0048c0047t0003 a0049c0054t0003 a0050c0055t0001 a0056c0061t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0007 a0001c0001t0002g0081 a0001c0001t0002g0090 a0001c0001t0002g0100 a0001c0001t0003g0003 a0001c0001t0003g0088 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0109 a0001c0001t0007g0022 a0001c0001t0009g0096 a0001c0001t0010g0076 a0001c0005t0001g0017 a0001c0005t0001g0104 a0001c0005t0001g0106 a0001c0005t0001g0108 a0006c0007t0001g0018 a0006c0007t0001g0114 a0006c0007t0002g0113 a0014c0015t0001g0054 a0014c0015t0004g0048 a0015c0016t0002g0061 a0015c0016t0003g0060 a0018c0048t0001g0107 a0018c0049t0008g0085 a0020c0018t0001g0078 a0020c0018t0001g0080 a0021c0021t0001g0020 a0025c0025t0001g0028 a0027c0030t0001g0037 a0030c0034t0001g0042 a0046c0050t0001g0074 a0047c0051t0001g0089 a0048c0047t0003g0093 a0049c0054t0003g0095 a0050c0055t0001g0082 a0056c0061t0001g0125	95	182	0.5220	-42	c.169 others(51): Show c.1693_1734delAAGGAGAAGATACGAGAGCAGGAGGAGAAGATATGG GAGCAG	p.Lys others(13): Show p.Lys565_Gln578del	GOLGA6L26	ENSG00000273756.5	transcript	ENST00000618455.5	protein_coding	8/9	1795/3731	1693/1950	565/649		chr15	TogoVar

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